chr12:33030831:CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC>GT Detail (hg19) (PKP2)

Information

Genome

Assembly Position
hg19 chr12:33,030,831-33,030,863
hg38 chr12:32,877,897-32,877,929 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001005242.2:c.951_983delinsAC NP_001005242.2:p.His318GlnfsTer24
NM_004572.3:c.951_983delinsAC NP_004563.2:p.His318GlnfsTer24
Ensemble ENST00000340811.9:c.951_983delinsAC ENST00000340811.9:p.His318GlnfsTer24
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602861 OMIM
HGNC 9024 HGNC
Ensembl ENSG00000057294 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-12-15 criteria provided, single submitter arrhythmogenic right ventricular cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) AND Arrhythmogenic right ventricular cardiomyopa... ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397517030 dbSNP
Genome
hg19
Position
chr12:33,030,831-33,030,863
Variant Type
snv
Reference Allele
CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC
Alternative Allele
GT
Genome browser